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Methylenetetrahydrofolate Reductase (MTHFR) Mutation

Anesthesia Implications

Anesthesia Implications

Drugs to avoid - Avoid nitrous oxide. this drug inactivates methionine synthetase. The body depends on this enzyme to produce vitamin B12 (which assists in reducing homocysteine levels). Avoid drugs containing sulfa. Avoid acid blockers and antacids. These are folate antagonists. Folate also assists in reducing homocysteine levels.

Pathophysiology

Methylenetetrahydrofolate reductase (MTHFR) is an enzyme responsible for the breakdown of homocysteine. The gene that leads to the production of this enzyme can mutate and render the enzyme either weak or completely inactive. This leads to increased blood levels of homocysteine which can lead to multiple conditions: glaucoma, mental health disorders, cancer, and birth abnormalities. Folate, vitamin B6, and vitamin B12 also assist in removing homocysteine. If any of these are rendered less effective or inactive, plasma homocysteine levels will be even higher.


Reference

Russell. Effect of antacid and H2 receptor antagonists on the intestinal absorption of folic acid. 1988.
Visentin. The intestinal absorption of folates. 2014.
Blom. Overview of homocysteine and folate metabolism. With special references to cardiovascular disease and neural tube defects. 2011.
Homocysteine Lowering with Folic Acid and B Vitamins in Vascular Disease. The New England Journal of Medicine. 2006.